ClinVar Miner

Submissions for variant NM_003047.5(SLC9A1):c.69T>C (p.Val23=)

gnomAD frequency: 0.31344  dbSNP: rs34306208
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001663329 SCV001873592 benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810201 SCV002057170 benign Lichtenstein-Knorr syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001663329 SCV003328287 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001663329 SCV005282718 benign not provided criteria provided, single submitter not provided

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