ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=)

gnomAD frequency: 0.00001  dbSNP: rs758851434
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000933671 SCV001079377 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578954 SCV001806320 likely benign Autosomal recessive nonsyndromic hearing loss 4 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001277153 SCV001806321 likely benign Pendred syndrome 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277153 SCV001463983 likely benign Pendred syndrome 2020-04-16 no assertion criteria provided clinical testing

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