ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val)

gnomAD frequency: 0.00004  dbSNP: rs764436131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004692390 SCV005190062 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001277784 SCV001464753 uncertain significance Pontocerebellar hypoplasia type 2D 2020-04-21 no assertion criteria provided clinical testing

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