ClinVar Miner

Submissions for variant NM_194292.3(SASS6):c.1835G>A (p.Arg612His)

gnomAD frequency: 0.00356  dbSNP: rs143522528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909822 SCV001054647 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818822 SCV002067397 benign not specified 2017-08-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346207 SCV004050115 benign Microcephaly 14, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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