ClinVar Miner

Submissions for variant NM_017999.5(RNF31):c.2311G>A (p.Glu771Lys)

gnomAD frequency: 0.00006  dbSNP: rs142436858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069321 SCV002419054 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267790 SCV001424108 uncertain significance Polyglucosan body myopathy type 1 2020-05-21 no assertion criteria provided clinical testing

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