ClinVar Miner

Submissions for variant NM_018192.4(P3H2):c.1549-10T>G

gnomAD frequency: 0.00181  dbSNP: rs2278760
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515097 SCV001723094 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001515097 SCV001811235 likely benign not provided 2018-09-28 criteria provided, single submitter clinical testing

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