ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)

gnomAD frequency: 0.00004  dbSNP: rs368775789
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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) RCV000512971 SCV000339030 uncertain significance not provided 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000383801 SCV000527233 likely benign not specified 2017-09-29 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.
CeGaT Center for Human Genetics Tuebingen RCV000512971 SCV000608601 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001443493 SCV001646466 likely benign Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002401992 SCV002713824 likely benign Inborn genetic diseases 2019-07-11 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.

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