ClinVar Miner

Submissions for variant NM_001271938.2(MEGF8):c.1934-7T>C

gnomAD frequency: 0.08176  dbSNP: rs1206044
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510870 SCV001718019 benign MEGF8-related Carpenter syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001692393 SCV001915006 benign not provided 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510870 SCV002014174 benign MEGF8-related Carpenter syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692393 SCV005307555 benign not provided criteria provided, single submitter not provided

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