ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser)

gnomAD frequency: 0.00047  dbSNP: rs377605009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081948 SCV000655313 likely benign Polyglucosan body myopathy type 1 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000560733 SCV001153406 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000560733 SCV001985680 uncertain significance not provided 2020-09-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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