ClinVar Miner

Submissions for variant NM_003047.5(SLC9A1):c.2205A>G (p.Glu735=)

gnomAD frequency: 0.97243  dbSNP: rs4418629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807807 SCV002057159 benign Lichtenstein-Knorr syndrome 2021-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001813829 SCV002061120 benign not provided 2022-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001813829 SCV003328283 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001813829 SCV005282716 benign not provided criteria provided, single submitter not provided

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