ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.806G>A (p.Ser269Asn)

gnomAD frequency: 0.00026  dbSNP: rs375217032
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518653 SCV000614760 uncertain significance not specified 2016-10-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728228 SCV000855774 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001241622 SCV001414652 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2024-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728228 SCV003809733 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000728228 SCV004702835 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing POMT2: BS2

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