ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.116-16G>A

gnomAD frequency: 0.00033  dbSNP: rs145790217
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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 RCV002179443 SCV002333044 likely benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268600 SCV002551616 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002179443 SCV005216946 likely benign not provided criteria provided, single submitter not provided

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