ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.556-11C>T

gnomAD frequency: 0.00004  dbSNP: rs188101690
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696761 SCV000535769 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001696761 SCV002426995 benign not provided 2024-10-16 criteria provided, single submitter clinical testing

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