ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.975G>A (p.Pro325=)

gnomAD frequency: 0.00067  dbSNP: rs145014649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180566 SCV000233033 uncertain significance not provided 2015-05-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335902 SCV000459346 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000180566 SCV000892704 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Invitae RCV000180566 SCV001608872 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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