ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.222G>A (p.Ala74=)

gnomAD frequency: 0.00001  dbSNP: rs752135049
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603813 SCV000721098 likely benign not specified 2017-07-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520317 SCV001729384 benign Nemaline myopathy 6 2024-12-12 criteria provided, single submitter clinical testing

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