ClinVar Miner

Submissions for variant NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=)

gnomAD frequency: 0.00067  dbSNP: rs151079505
Minimum review status: Collection method:
Minimum conflict level:
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) RCV000175078 SCV000226506 uncertain significance not provided 2014-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175078 SCV001046249 benign not provided 2018-06-21 criteria provided, single submitter clinical testing

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