ClinVar Miner

Submissions for variant NM_001440.4(EXTL3):c.2277-15_2277-3dup

dbSNP: rs756857596
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002139103 SCV002470207 likely benign not provided 2024-10-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486967 SCV002797212 likely benign Immunoskeletal dysplasia with neurodevelopmental abnormalities 2022-03-28 criteria provided, single submitter clinical testing

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