ClinVar Miner

Submissions for variant NM_001242957.3(MAK):c.1184G>T (p.Arg395Leu)

dbSNP: rs62000445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349993 SCV000459343 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971523 SCV001119177 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700085 SCV001918970 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700085 SCV001973155 benign not specified no assertion criteria provided clinical testing

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