ClinVar Miner

Submissions for variant NM_176811.2(NLRP8):c.142G>A (p.Val48Met)

gnomAD frequency: 0.00793  dbSNP: rs61738689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198624 SCV001369618 benign not provided 2018-10-26 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
CeGaT Center for Human Genetics Tuebingen RCV001198624 SCV004138398 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing NLRP8: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001198624 SCV005206078 likely benign not provided criteria provided, single submitter not provided

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