ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.180G>A (p.Lys60=)

gnomAD frequency: 0.00004  dbSNP: rs34621955
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588240 SCV000601254 likely benign not provided 2022-07-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000588240 SCV001020239 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507965 SCV001338232 likely benign not specified 2020-02-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159640 SCV003855118 likely benign Inborn genetic diseases 2023-01-12 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.
Natera, Inc. RCV001276402 SCV001462664 likely benign beta Thalassemia 2020-04-16 no assertion criteria provided clinical testing

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