ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.472_485del (p.Pro158fs)

dbSNP: rs774592796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005229773 SCV005874618 pathogenic not provided 2024-08-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as del1074-1087; This variant is associated with the following publications: (PMID: 1483695, 1809231)
OMIM RCV000009155 SCV000029372 pathogenic Persistent mullerian duct syndrome, type I 1992-12-01 no assertion criteria provided literature only

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