ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)

gnomAD frequency: 0.00088  dbSNP: rs140553130
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248748 SCV000311749 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725195 SCV000334830 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000725195 SCV000524734 likely benign not provided 2021-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089075 SCV001005433 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000725195 SCV001145182 likely benign not provided 2018-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725195 SCV004156578 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing POMT1: BP4, BP7

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