ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.755+17C>T

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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 RCV005191414 SCV005848066 likely benign Alacrima, achalasia, and intellectual disability syndrome 2024-05-14 criteria provided, single submitter clinical testing

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