ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.6072T>C (p.Pro2024=)

dbSNP: rs772621870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000948461 SCV001094672 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
GeneDx RCV000948461 SCV001755982 benign not provided 2018-10-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260117 SCV002539578 benign Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-12-05 criteria provided, single submitter clinical testing

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