ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.675A>G (p.Arg225=)

gnomAD frequency: 0.00297  dbSNP: rs41271965
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339785 SCV000348278 likely benign Pyknodysostosis 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000675967 SCV001107617 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000339785 SCV004049720 likely benign Pyknodysostosis 2023-04-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675967 SCV004124605 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CTSK: BP4, BP7, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000675967 SCV000801696 likely benign not provided 2017-08-02 no assertion criteria provided clinical testing
Natera, Inc. RCV000339785 SCV001455144 benign Pyknodysostosis 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003910059 SCV004719226 likely benign CTSK-related disorder 2019-10-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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