ClinVar Miner

Submissions for variant NM_005448.2(BMP15):c.226C>T (p.Arg76Cys)

gnomAD frequency: 0.00025  dbSNP: rs104894766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001169399 SCV001332094 uncertain significance Ovarian dysgenesis 2 2017-09-12 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mendelics RCV001169399 SCV002518577 pathogenic Ovarian dysgenesis 2 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000012226 SCV000032460 pathogenic Premature ovarian failure 4 2006-05-01 no assertion criteria provided literature only

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