ClinVar Miner

Submissions for variant NM_000479.5(AMH):c.974A>G (p.Gln325Arg)

gnomAD frequency: 0.00966  dbSNP: rs140765565
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425000 SCV000520872 likely benign not specified 2015-11-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000425000 SCV000538281 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 22/2178=1%
Genetic Services Laboratory, University of Chicago RCV000425000 SCV000593130 benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000955623 SCV001102338 benign not provided 2023-10-06 criteria provided, single submitter clinical testing
Mendelics RCV000990134 SCV001140951 benign Persistent Mullerian duct syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000955623 SCV004141357 benign not provided 2023-10-01 criteria provided, single submitter clinical testing AMH: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000955623 SCV005206369 likely benign not provided criteria provided, single submitter not provided

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