ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)

gnomAD frequency: 0.00001  dbSNP: rs770290260
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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 RCV001225657 SCV001397942 benign Hereditary hemorrhagic telangiectasia 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484223 SCV002785973 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2021-08-25 criteria provided, single submitter clinical testing

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