ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1257G>A (p.Lys419=)

gnomAD frequency: 0.00001  dbSNP: rs747564818
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936390 SCV001082155 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275106 SCV001459869 likely benign Pendred syndrome 2020-01-07 no assertion criteria provided clinical testing

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