ClinVar Miner

Submissions for variant NM_020771.4(HACE1):c.2443-5_2443-3del

dbSNP: rs72218235
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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 RCV002117875 SCV002408737 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494279 SCV002799138 benign Spastic paraplegia-severe developmental delay-epilepsy syndrome 2021-09-13 criteria provided, single submitter clinical testing

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