ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.495G>A (p.Leu165=)

gnomAD frequency: 0.00020  dbSNP: rs181901772
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000932963 SCV001078656 benign Alacrima, achalasia, and intellectual disability syndrome 2022-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003334029 SCV004042124 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing GMPPA: BP4, BP7

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