ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.38C>T (p.Ala13Val)

gnomAD frequency: 0.00026  dbSNP: rs779585255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704483 SCV000531105 likely benign not provided 2019-08-12 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785117 SCV000923678 likely benign Megaconial type congenital muscular dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000785117 SCV001015794 likely benign Megaconial type congenital muscular dystrophy 2024-10-29 criteria provided, single submitter clinical testing

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