ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1310-5C>T

dbSNP: rs755472353
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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
Invitae RCV001473480 SCV001677633 likely benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501632 SCV002813110 likely benign Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2022-04-23 criteria provided, single submitter clinical testing

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