ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) (rs138171526)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250850 SCV000311752 benign not specified 2016-03-25 criteria provided, single submitter clinical testing
GeneDx RCV000710191 SCV000518121 likely benign not provided 2021-03-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710191 SCV000614748 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
Invitae RCV001085204 SCV000649890 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-11-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001169203 SCV001331879 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 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.

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