ClinVar Miner

Submissions for variant NM_153447.4(NLRP5):c.3008C>T (p.Ala1003Val)

dbSNP: rs182963698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000879189 SCV001022205 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920482 SCV004734928 likely benign NLRP5-related disorder 2023-04-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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