ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.1239T>A (p.Gly413=)

gnomAD frequency: 0.88393  dbSNP: rs7252789
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000614543 SCV000743870 benign Persistent Mullerian duct syndrome 2016-11-16 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000614543 SCV000745294 benign Persistent Mullerian duct syndrome 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001692223 SCV001910570 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001692223 SCV002380188 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692223 SCV005311354 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000614543 SCV000733869 benign Persistent Mullerian duct syndrome no assertion criteria provided clinical testing

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