ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.678+15C>T

gnomAD frequency: 0.00717  dbSNP: rs140995522
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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 RCV000366000 SCV000361478 likely benign Phytanic acid storage disease 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000366000 SCV000743838 likely benign Phytanic acid storage disease 2014-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523657 SCV001733411 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001523657 SCV002028428 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523657 SCV005226939 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699432 SCV001923346 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001523657 SCV001953580 likely benign not provided no assertion criteria provided clinical testing

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