ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=)

gnomAD frequency: 0.00227  dbSNP: rs143269092
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) RCV000178667 SCV000230790 likely benign not specified 2014-09-03 criteria provided, single submitter clinical testing
Invitae RCV000912509 SCV001057619 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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