ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.3741C>T (p.Asp1247=)

gnomAD frequency: 0.00043  dbSNP: rs199504022
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
Invitae RCV002088808 SCV002382620 benign not provided 2023-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002088808 SCV004166308 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing CACNA1F: BP4, BP7

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