ClinVar Miner

Submissions for variant NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg)

gnomAD frequency: 0.99173  dbSNP: rs3122407
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000371280 SCV000331245 benign not specified 2015-09-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553916 SCV001775019 benign Intellectual disability, X-linked 93 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001668619 SCV001884127 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001668619 SCV002385085 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668619 SCV005274790 benign not provided criteria provided, single submitter not provided

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