ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2454G>A (p.Trp818Ter)

dbSNP: rs1576878011
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991746 SCV001143439 likely pathogenic not provided 2019-02-03 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to significantly disrupt the protein structure. Not found in the total gnomAD dataset, and the data is high quality (0/251334 chr).

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