ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) (rs371329585)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862761 SCV001003311 likely benign Alstrom syndrome 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV001731954 SCV001983171 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Natera, Inc. RCV000862761 SCV001465811 likely benign Alstrom syndrome 2020-09-02 no assertion criteria provided clinical testing

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