ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.867A>G (p.Val289=)

gnomAD frequency: 0.00004  dbSNP: rs147570352
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
Illumina Laboratory Services, Illumina RCV000305423 SCV000459348 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524459 SCV002939221 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing

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