ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.85G>A (p.Ala29Thr)

gnomAD frequency: 0.00183  dbSNP: rs138399473
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000894626 SCV001038622 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Mendelics RCV000990847 SCV001141894 uncertain significance Osteopathia striata with cranial sclerosis 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120005 SCV000084135 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000894626 SCV001800265 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000120005 SCV001927955 benign not specified no assertion criteria provided clinical testing

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