ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.1312+3A>G

gnomAD frequency: 0.00031  dbSNP: rs117698926
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251644 SCV000313155 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000906101 SCV000513717 benign not provided 2018-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000906101 SCV001050724 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000251644 SCV001880580 benign not specified 2021-05-14 criteria provided, single submitter clinical testing

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