ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)

gnomAD frequency: 0.00138  dbSNP: rs150646039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193940 SCV000248832 uncertain significance not specified 2015-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873932 SCV001016034 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001558681 SCV001780680 uncertain significance not provided 2023-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27491411)
PreventionGenetics, part of Exact Sciences RCV004541252 SCV004799428 likely benign SDCCAG8-related disorder 2024-01-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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