ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.975-13G>T

dbSNP: rs778720143
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002217340 SCV002365773 likely benign Hereditary spastic paraplegia 50 2022-09-01 criteria provided, single submitter clinical testing

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