ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.805A>G (p.Met269Val)

gnomAD frequency: 0.00002  dbSNP: rs1323617205
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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 RCV002233723 SCV000836674 benign Hereditary hemorrhagic telangiectasia 2022-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493252 SCV002779800 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2021-09-01 criteria provided, single submitter clinical testing

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