ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.860= (p.Asn287=)

gnomAD frequency: 0.16253  dbSNP: rs1800354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245291 SCV000303098 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081162 SCV000634393 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2025-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710217 SCV000677488 benign not provided 2017-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000245291 SCV000729999 benign not specified 2016-01-26 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.

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