ClinVar Miner

Submissions for variant NM_006343.3(MERTK):c.2079+10del

gnomAD frequency: 0.00021  dbSNP: rs529766238
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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 RCV000370801 SCV000415966 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522810 SCV001732422 benign not provided 2024-11-25 criteria provided, single submitter clinical testing

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