ClinVar Miner

Submissions for variant NM_007289.4(MME):c.2154-13G>A

gnomAD frequency: 0.00018  dbSNP: rs199816998
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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
GeneDx RCV001565767 SCV001789176 likely benign not provided 2020-09-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001565767 SCV002462485 likely benign not provided 2024-12-11 criteria provided, single submitter clinical testing

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