ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=)

gnomAD frequency: 0.00004  dbSNP: rs1007802384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960404 SCV001107374 likely benign Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2023-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543605 SCV004788832 likely benign SDCCAG8-related disorder 2020-11-30 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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