ClinVar Miner

Submissions for variant NM_031307.4(PUS3):c.136G>T (p.Ala46Ser)

gnomAD frequency: 0.66649  dbSNP: rs549990
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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 RCV001518809 SCV001727576 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796546 SCV002033338 benign Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518809 SCV005231119 benign not provided criteria provided, single submitter not provided

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