ClinVar Miner

Submissions for variant NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg)

gnomAD frequency: 0.93525  dbSNP: rs3851294
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244891 SCV000312541 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660328 SCV001875791 benign Congenital anomalies of kidney and urinary tract 1 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660329 SCV001875792 benign Hereditary spastic paraplegia 23 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001696198 SCV001916151 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30389748)
Labcorp Genetics (formerly Invitae), Labcorp RCV001696198 SCV002464996 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001696198 SCV005281767 benign not provided criteria provided, single submitter not provided

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