ClinVar Miner

Submissions for variant NM_052832.4(SLC26A7):c.1363G>A (p.Val455Met)

gnomAD frequency: 0.00522  dbSNP: rs145779342
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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 RCV000954944 SCV001101612 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954944 SCV004155999 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SLC26A7: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954944 SCV005264914 benign not provided criteria provided, single submitter not provided

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