ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.750C>T (p.Ser250=)

gnomAD frequency: 0.00031  dbSNP: rs367640773
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443778 SCV000532023 likely benign not provided 2018-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423000 SCV001625568 likely benign Alacrima, achalasia, and intellectual disability syndrome 2023-09-29 criteria provided, single submitter clinical testing

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