ClinVar Miner

Submissions for variant NM_153447.4(NLRP5):c.1072T>C (p.Leu358=)

gnomAD frequency: 0.00116  dbSNP: rs199475773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000089538 SCV001109860 benign not provided 2018-06-06 criteria provided, single submitter clinical testing
Human Evolutionary Genetics, Institut Pasteur RCV000089538 SCV000121997 untested not provided no assertion provided not provided Converted during submission to not provided.

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