ClinVar Miner

Submissions for variant NM_005664.4(MKRN3):c.425G>C (p.Gly142Ala)

gnomAD frequency: 0.00093  dbSNP: rs144864886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917622 SCV001062907 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000917622 SCV003933345 uncertain significance not provided 2023-06-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000917622 SCV005093274 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing MKRN3: BP4, BS2

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