ClinVar Miner

Submissions for variant NM_018192.4(P3H2):c.1548+19T>C

gnomAD frequency: 0.01347  dbSNP: rs6770264
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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 RCV001516208 SCV001724448 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001516208 SCV001793471 likely benign not provided 2019-06-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516208 SCV005263505 likely benign not provided criteria provided, single submitter not provided

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