ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.778C>T (p.Pro260Ser)

gnomAD frequency: 0.00001  dbSNP: rs766382878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343845 SCV001537862 likely benign CHARGE syndrome 2024-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547427 SCV003692439 uncertain significance Inborn genetic diseases 2022-11-16 criteria provided, single submitter clinical testing The c.778C>T (p.P260S) alteration is located in exon 2 (coding exon 1) of the CHD7 gene. This alteration results from a C to T substitution at nucleotide position 778, causing the proline (P) at amino acid position 260 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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