ClinVar Miner

Submissions for variant NM_057176.3(BSND):c.715C>T (p.Gln239Ter)

gnomAD frequency: 0.00071  dbSNP: rs147394986
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731639 SCV000859483 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731639 SCV001055101 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV000731639 SCV001825205 likely benign not provided 2019-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535230 SCV003591012 likely benign Inborn genetic diseases 2022-01-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV000731639 SCV005407938 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing BS1, PVS1_moderate
Natera, Inc. RCV001273290 SCV001456163 uncertain significance Bartter syndrome 2019-10-28 no assertion criteria provided clinical testing

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