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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000676746 SCV000287964 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676746 SCV005238362 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676746 SCV000802547 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing

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