ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1561_1564del (p.Ile520_Asn521insTer)

dbSNP: rs1572031494
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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 RCV000992004 SCV001143950 likely pathogenic not provided 2019-04-18 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/282272 chr).

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