ClinVar Miner

Submissions for variant NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys)

gnomAD frequency: 0.01111  dbSNP: rs35881803
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 RCV000676746 SCV000287964 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676746 SCV000802547 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing

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