ClinVar Miner

Submissions for variant NM_005198.5(CHKB):c.6G>A (p.Ala2=)

gnomAD frequency: 0.00001  dbSNP: rs927716556
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309245 SCV001498740 uncertain significance Megaconial type congenital muscular dystrophy 2021-09-01 criteria provided, single submitter clinical testing

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