ClinVar Miner

Submissions for variant NM_032793.5(MFSD2A):c.93+16C>A

gnomAD frequency: 0.00134  dbSNP: rs189000715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002120369 SCV002404387 benign not provided 2025-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508005 SCV002797226 likely benign Microcephaly 15, primary, autosomal recessive 2022-04-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002120369 SCV005287701 benign not provided criteria provided, single submitter not provided

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