ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.3379G>A (p.Glu1127Lys)

gnomAD frequency: 0.00017  dbSNP: rs143423231
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153275 SCV000202751 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
Invitae RCV000904861 SCV001049409 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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